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Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.

Arch. Oral Biol.. 2019-02; 
ZhangTingting, WuJing, ZhaoXiaoxue, HouFeifei, MaTengfei, WangHuijuan, ZhangXu, ZhangXia
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Mutagenesis Services … databases. Table 1. Primers used in the study. Site-Directed Mutagenesis. Wild type (WT) human RUNX2 cloned into the eukaryotic expression vector pcDNA3.1(+) was provided by GenScript and used as a template for mutagenesis … Get A Quote

摘要

Cleidocranial dysplasia (CCD) is a congenital autosomal dominant skeletal disease characterized by multiple craniofacial and dental anomalies. Here， we investigated mutation of the runt-related transcription factor 2 (RUNX2) gene， which is considered responsible for most instances of CCD in patients， in a Chinese family with CCD.

关键词

Cleidocranial dysplasia，IBSP，RUNX2，Splice-site mutation，Whole-exome sequen
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